Neuroligin-4 Gene Single Nucleotide Polymorphism With Chinese Han Children With Autism Research

Objective:To investigate the relationship between single nucleotide polymorphisms (SNPs) of Neuroligin-4 (NL4) gene and childhood autism in Chinese Han population,and provide theory base for pathogenesis,early prevention and cure of childhood autism.Method:Polymerase chain reaction-restricted fragment length polymorphism and single- strand conformation polymorphism (PCR-RFLP/SSCP) were used to determine allele and genotype of five SNPs(rs5916271,rs7049300,rs6638575,rs3810686 and rs1882260)of Neuroligin-4 in 80 Chinese Han autism children and 82 healthy children. Autism Behavior Checklist(ABC) and Childhood Autism Rating Scale(CARS) were used to evaluate clinical symptom.The distribution of SNPs Loci allele were analysed through case-control study and SNPs Loci of autism group and the healthy control group were examined regarding Hardy–Weinberg equilibrium tests; in addition, took an analysis between two SNPs (rs5916271 and rs1882260) on Neuroligin-4 gene and the clinical characteristics (condition, gender) of autism . All analysis were completed by statistical software SPSS13.0.Result:1.The genotype distributions of the SNPs in autism group and control group was consistent with the Hardy-Weinberg equilibrium(P>0.05).2.There was not significant difference in the distribution of the allelic frequency and genotype between the two groups (rs5916271: genotype frequencyχ~2=0.226, allelic frequencyχ~2=0002; rs7049300: genotype frequencyχ~2=2.950, allelic frequencyχ~2=1.729; rs6638575: genotype frequencyχ~2=0.661, allelic frequencyχ~2=0.055; rs3810686: genotype frequencyχ~2=0.126,allelic frequencyχ~2=0.017; rs1882260: genotype frequencyχ~2=1.236, allelic frequencyχ~2=1.106. P(total)>0.05).3. Neuroligin-4 allele and genotype distribute in mild or moderate childhood autism group compared to heavy childhood autism group indicated that rs5916271 and rs1882260 locus had no correlation with pathogenetic condition of autism(P>0.05).4. There was no significant difference in the distribution of the allelic frequency and genotype between boys and girls in autism group(P>0.05). Conclusion:1.There was no association between five SNPs (rs5916271,rs7049300,rs6638575,rs3810686 and rs1882260) of Neuroligin-4 and childhood autism in Chinese Han population. 2. There was no association between the Neuroligin-4 gene and the clinical characteristics (condition, gender) of autism.